List of variants reported as uncertain significance for Multiple Epiphyseal Dysplasia, Dominant by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001851.6(COL9A1):c.*174T>C	rs776515044	0.00003
NM_006602.4(TCFL5):c.*834G>A	rs886056918	0.00003
NM_001853.4(COL9A3):c.800G>A (p.Arg267Gln)	rs749822735	0.00002
NM_001851.6(COL9A1):c.*247dup	rs886061694
NM_001851.6(COL9A1):c.1342-16dup	rs759288929
NM_006602.4(TCFL5):c.*924T>G	rs886056917

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.